Pedigree analysis is a genetic tool used to study inheritance patterns in families, particularly to

trace the occurrence of specific traits or diseases across generations. It's often employed in
medical genetics to understand the transmission of inherited conditions, such as genetic
disorders. The key elements in pedigree analysis include symbols representing individuals, their
relationships, and the manifestation of traits or diseases.

A pedigree is a diagram that represents the inheritance of traits, diseases, or genetic patterns
across generations within a family. It is widely used in genetics, medical research, and breeding.

Steps to Make a Pedigree

1. Gather Family Information

 Collect detailed information about family members:

o Names or unique identifiers.
o Relationships (e.g., parents, siblings, children).
o Traits or conditions of interest (e.g., genetic disorders, physical traits).
 Note their gender and age or year of birth.

2. Choose a Format

 You can create a pedigree by hand or using software. Common tools include:
o Drawing tools: Paper and pencil, Microsoft PowerPoint/Word, or graphic design
apps.
o Software: Online pedigree generators (e.g., GenoPro, Progeny), or bioinformatics
tools like PedigreeDraw or R packages.

3. Learn Pedigree Symbols

 Circle: Female.
 Square: Male.
 Diamond: Unknown or unspecified gender.
 Shaded: Affected by the trait/condition being studied.
 Unshaded: Not affected by the trait/condition.
 Half-shaded: Carrier of a trait (e.g., heterozygous for recessive conditions).

4. Start with the Oldest Generation

 Place the oldest known relatives at the top.

 Connect them with a horizontal line if they are married or partners.
 Draw vertical lines down to their offspring.

5. Add Subsequent Generations

 Continue adding individuals generation by generation.

 Include siblings in the same horizontal row, connected to their parents by a vertical line.
6. Indicate Relationships

 Marriage/Partnership: Horizontal line between two individuals.

 Offspring: Vertical line leading to a horizontal sibling line.
 Twins: Two vertical lines diverging from the same point.
o Add diagonal lines if they are identical (monozygotic).

7. Label Each Individual

 Assign a number or name for identification.

 Optionally, include additional details (e.g., birth years, conditions).

8. Annotate the Pedigree

 Write explanations or legends to describe:

o The trait being studied.
o Symbols or abbreviations used.

9. Review and Refine

 Double-check for missing family members or relationships.

 Ensure the information is accurate and clear.

10. Optional: Use Genetics Notation

 Add genotypes (e.g., AA, Aa, aa) if available.

 Indicate inheritance patterns (dominant, recessive, X-linked).

Criteria for Identifying Various Modes of Inheritance

1. Autosomal Dominant Inheritance

 Characteristics:
o Affected individuals have at least one affected parent.
o The trait appears in every generation (vertical transmission).
o Both males and females are equally likely to be affected.
o Approximately 50% of offspring of an affected individual will inherit the trait if
the other parent is unaffected.
o Unaffected individuals do not transmit the trait.
 Pedigree Indicators:
o No skipping of generations.
o Male-to-male transmission can occur, ruling out X-linkage.

2. Autosomal Recessive Inheritance

 Characteristics:
 o Affected individuals often have unaffected parents (carriers).
o The trait may skip generations (horizontal transmission).
o Both males and females are equally likely to be affected.
o If both parents are carriers, 25% of their offspring may be affected, 50% carriers,
and 25% unaffected.
o Increased likelihood of the trait appearing in consanguineous marriages (parents
who are related).
 Pedigree Indicators:
o Skipping of generations is common.
o Affected offspring often arise from unaffected carrier parents.

3. X-linked Dominant Inheritance

 Characteristics:
o Both males and females can be affected, but females are more commonly affected
due to the presence of two X chromosomes.
o Affected males pass the trait to all their daughters but none of their sons.
o Affected females pass the trait to 50% of their offspring (regardless of sex).
o No male-to-male transmission.
 Pedigree Indicators:
o All daughters of an affected male are affected, but sons are not.
o More females are typically affected than males.
o No male-to-male transmission.

4. X-linked Recessive Inheritance

 Characteristics:
o Males are more commonly affected than females due to having only one X
chromosome.
o Affected males usually have unaffected carrier mothers.
o Affected males cannot pass the trait to their sons, but all of their daughters will be
carriers.
o Carrier females have a 50% chance of passing the allele to their sons (affected)
and daughters (carriers).
 Pedigree Indicators:
o More males than females are affected.
o No male-to-male transmission.
o Affected males often arise from carrier mothers, and daughters of affected males
are carriers.

5. Y-linked Inheritance

 Characteristics:
o Only males are affected.
o The trait is passed directly from father to son.
o All sons of an affected male are affected.
 o No females are affected or carry the trait.
 Pedigree Indicators:
o Direct male-to-male transmission.
o Only males are affected, and it does not skip generations.

6. Mitochondrial Inheritance

 Characteristics:
o Both males and females can be affected, but the trait is only passed through
females.
o All offspring of an affected female inherit the trait, while none of the offspring of
an affected male inherit the trait.
o Mitochondrial traits often involve disorders related to energy production (since
mitochondria are responsible for cellular energy).
 Pedigree Indicators:
o Trait passed from mother to all offspring.
o No male-to-offspring transmission.

General Pedigree Symbols:

 Circle: Female
 Square: Male
 Shaded Symbol: Affected individual
 Unshaded Symbol: Unaffected individual
 Half-shaded Symbol: Carrier (for autosomal recessive or X-linked recessive traits)
 Horizontal Line: Mating/parents
 Vertical Line: Offspring

By using these criteria and observing how traits appear and are transmitted within a family tree,
one can determine the likely mode of inheritance for genetic disorders or traits in a pedigree
analysis.